A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993104



Internal ID6729065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17835214..17835287hg38UCSC Ensembl
chr22:18317980..18318053hg19UCSC Ensembl
chr22:16697980..16698053hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3585204
SamplesHuRef
Known GenesMICAL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993104
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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